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World of Genomics: Portugal

Anjum Aktar 13 December 2022

Portugal is the next stop in our World of Genomics tour. The country has a beautiful landscape, from the low-lying coasts to the Estrela Mountains (also known as the Star Mountain Range). Portugal is the oldest county in Europe and its capital city, Lisbon, is the oldest European capital city. The rich history of Portugal is well known. It is home to 17 UNESCO World Heritage Sites, which include magnificent monasteries, charming cityscapes, and prehistoric artwork. The country is the home of two famously sweet wines, Port and Madeira, and (arguably) one of the best footballers in the World, Cristiano Ronaldo. The Algarve, which is the southern region of Portugal, boasts some of the most popular beaches in Europe. Portuguese explorers also added flavour to the Western world though the introduction of spices from the East. Portugal’s Mediterranean-based cuisine makes use of these spices too. Come and learn more about Portugal’s genomics landscape.

The population of Portugal

Portugal occupies the Iberian Peninsula, which it shares with Spain. The country is bordered by Spain to the north and east and by the Atlantic Ocean to the south and west.

Figure 1: Map of Portugal (Source: Canva)  

The history of Portugal, like most if its European neighbours, begins with the Roman occupation. The Roman rule of Portugal ended when the  Moors invaded the Iberian Peninsula in the 8th century. After several centuries, the Moors were pushed south. Alfonso Henriques, who battled against the Moors, proclaimed himself as the first King of Portugal.

During this time, east-west disputes between Portugal and Spain were constant. The formation of an alliance with England helped to settle disputes with Spain.

The Portuguese then began to explore the Atlantic Ocean and, as a result, established a vast overseas empire. It remained a colonial power until the mid-1970s. At this point, Portugal also became a democratic republic.  In 1986, Portugal joined the EU. This lead to major improvements in infrastructure, medical facilities and schools. It also led to increased foreign investment, which shaped the country people visit and enjoy today. 

Geographic and demographic information

Summary statistics

  • Land area: 92,212 km²
  • Gross domestic product (GDP):
    • Total: $249.89 billion
    • Per capita: $24,262.2

Population statistics

  • Population size: 10,299,423 (2021)
  • Birth rate: 8 per 1000 people (2020)
  • Death rate: 12 per 1000 people (2020)
  • Infant mortality rate: 3 per 1000 live births (2020)
  • Life expectancy: 81 (2020)
    • Male 2020 estimate: 78 years
    • Female 2020 estimate: 84 years
  • Ethnicities: The ethnic composition of Portugal is mainly Portuguese (94%). The remaining composition is made up of people who are Black (1.2%), mixed race (1.2%), Brazilians (1.2%) or other Europeans (1.2%).

Healthcare system

The standard of healthcare in Portugal is high. The country ranked 3rd in patient-centred care in the 2021 World Index of Healthcare Innovation (WIHI). Portugal spends 9.53% of its GDP on healthcare. It ranked 17th overall in the 2021 WIHI.

With the establishment of the Servico Nacional de Saude (SNS) in 1979, the modern Portuguese healthcare system was born. The healthcare system is now comprised of three parts: the SNS, occupation-based social health insurance schemes that are used in the public sector and in certain professions (military, police and banking) and private health insurance.

The SNS consists of local structures and the Ministry of Health. Within the SNS, there are Regional Health Administration (ARS) units in the North, Center, Lisbon and Vale do Tejo, Alentejo, and Algarve. The ARS facilitate contact between local structures and the Ministry of Health to ensure better coordination of healthcare services.

The healthcare system is funded through taxes and contributions from working residents. It covers some of the costs of most services including doctors, hospitals, maternity care, some dental care and specialist care. Therefore, certain services require a small contribution. As a result, 20% of the population also have private health insurance.

Health priorities

In Portugal, mental health issues are very common. Studies have shown that approximately 30% of Portuguese residents have struggled with a mental health issue. Levels of depression and substance abuse is also higher than the EU average. Unfortunately, Portugal has underdeveloped mental healthcare provisions. There are 14.1 psychiatrists per 100,000 inhabitants. 18 countries in the EU have a higher number of psychiatrists per 100,000 inhabitants than Portugal. In order to address this, the National Plan for Mental Health was adopted in 2016. The goal of the plan was to make sure that high-quality, easily accessible mental health services were provided. It also supported the reintegration of people with mental health problems into society. The plan outlined an integrated approach to mental health services through the establishment of a network between primary health care, specialised care and social care.

The leading causes of death in Portugal (before the pandemic) were cardiovascular diseases and cancer. The leading cancers in men were prostate (21%), colorectal (20%) and lung (12%). The leading cancers in women were breast (28%), colorectal (16%) and lung (6%).  To improve the survival rates from cancer, Portugal launched the National Cancer Plan in 2016. The strategy was renewed and a new plan for 2021-2030 has been outlined. The plan outlines several objectives around prevention, early detection, diagnosis and treatment.

An assessment of risk factors showed that around 30% of all deaths in Portugal (in 2019) could be attributed to behavioural choices. The risk factors identified were tobacco smoking, dietary risks, alcohol consumption and low physical activity. Although smoking has reduced in Portugal, alcohol consumption and obesity rates are higher than the EU average. Obesity is a major public health concern in Portugal. In 2018, 22% of 15-year-olds were overweight or obese. To tackle this, several public health measures have been introduced including placing an additional tax on highly calorific food and soft drinks, restricting advertisements on unhealthy food products for children under 16, reducing the salt content in some food products and physical activity can now be prescribed.

Genomic medicine capabilities

The Portuguese newborn screening program was established in 1979 as a voluntary public health initiative to check for phenylketonuria. The screening is a standard practise – 99.9% of Portuguese newborns are screened under the programme. The screening panel tests for 26 disorders, including cystic fibrosis and congenital hypothyroidism. Almost 90,000 samples are processed annually by a national laboratory, which conducts the tests. Over 3.8 million newborns have been screened since 1979, with 2,130 affected newborns detected.

The availability of genetic counselling in Portugal is limited. According to the ‘genetic information law,’ genetic counselling must be provided before and after prenatal, carrier, pre-symptomatic and susceptibility testing with informed written consent. Although legislation is in place, genetic counselling is not yet recognised as a profession by national authorities. In 2018, there were only around 10 genetic counsellors. There is one master’s training programme in genetic counselling, which is taught at the University of Porto. Genetic tests conducted by public health care services are covered by the SNS. Data from genetic tests is also well protected because employers and insurers are prohibited from accessing test results.

Despite the availability of some genetic services in Portugal, medical genetics still requires improvement. In a recent study, published in November 2022, medical genetics professionals were interviewed about genetic healthcare services in Portugal and the findings highlighted a need to improve genetics education and training in primary healthcare. The survey results also said that funding needs to be increased to train more professionals in genetic services.  Simpler procedures were also suggested for genetic testing requests in order to reduce the long wait times and better manage the service. The survey also highlighted that national authorities need to officially recognise  genetic counsellors as professionals.

Portugal has a wide variety of biobank structures, both in terms of size and the pathologies they focus on. There are large national biobank infrastructures. For example, the biobank of the Oporto University Institute for Public Health stores over 200,000 samples and facilitates research on population health using data collected from longitudinal studies. The biobank contributes to the study of diseases that are common in the Portuguese population (diabetes, cancer, cardiovascular disease, obesity and rheumatic diseases).

The biobank of the Institute of Molecular Medicine (IMM) within the Lisbon Academic Center of Medicine (CAML) is a relatively new structure (around 7 years old). The biobank of IMM has over 200,000 samples grouped in 14 collections that are related to various disease areas including neurology, oncology and rheumatology. The biobank enables research on disease pathogenesis with the goal of identifying diagnostic and prognostic markers.

Biobanks in Portugal are also arranged into consortiums. Biobanco.PT is a national research infrastructure that fosters collaboration, enables standardisation of biobanking procedures and promotes sharing of resources for more cost-efficient research.

Notable projects

  • B1MG (Beyond 1 million genomes): The B1MG project is an offshoot of the 1+ Million Genomes (1+MG) initiative, which is expected to complete its initial testing phase in 2022.The project aims to set up an accessible long-term genomic data infrastructure and promote implementation of the infrastructure in genomic medicine initiatives. As a signatory country of the initial 1+MG initiative, Portugal has representatives on the governing board of the B1MG project where they provide strategic advice.
  • University of Coimbra’s Lab for Advanced Computing: The lab started off as a way to promote computationally-intensive research within the University of Coimbra by providing high performance computing services. It has expanded to support Portuguese researchers both nationally and internationally in various projects that need intense data processing, like genomics, artificial intelligence and bioimaging.
  • In2Genome project: A collaborative project coordinated by a team of experts in sequencing, clinical genetics and personalised medicine. The project aimed to develop a new approach for the diagnosis of neurodevelopmental genetic diseases using population-wide genomic data and personal genetic information from by whole-exome analysis.
  • Spain and Portugal Regional DNA Project: Part of the ‘one-family one world’ European-wide project, initiated by  Eupedia in  2017. The long-term goal of the project is to “see how humans are all connected with one another as one big family.” The Iberian peninsula has a complex population history and to better understand both recent and ancient migrations, the project aims to map the regional genetic variations of Iberia in more detail.

Notable organisations and companies

  • GenomePT: A national infrastructure to promote the participation of Portuguese scientists in national and international genome projects through providing sequencing and bioinformatic analysis services.
  • PT Openscreen: A national network of chemistry and biology academic institutions that discover biological activities of chemical compounds. Compounds undergo chemical and genetic screening to assess their therapeutic potential.
  • The Portuguese Society of Human Genetics (SPGH): Founded in 1996 by a group of medical and clinical geneticists, the society brings together professionals in Portugal to promote the understanding of human genetics for application in clinical genomic medicine.
  • CIAS (Centro de Investigação em Antropologia e Saúde): The only institute in the field of biological anthropology in Portugal. The centre’s mission is to investigate the biocultural determinants of health in past and present societies. It examines the genetic diversity among populations, taking into account both healthy and pathological phenotypes.

Notable individuals

  • Associate Professor Astrid Vicente: A senior researcher and coordinator at the Department of Health Promotion and NCD Prevention in the Instituto Nacional de Saúde Doutor Ricardo Jorge. She is the representative for Portugal on the 1+Million Genome initiative and Beyond 1 Million Genomes project.
  • Professor Ricardo de Almeida Jorge: Jorge was one of the principal doctors who pioneered  public health policy and laid the foundations for preventative medicine in Portugal. He navigated Portugal through the bubonic plague using epidemiology-based sanitary measures. Jorge’s legacy continues through the Instituto Nacional de Saúde Dr. Ricardo Jorge, which coordinates the Portuguese effort against epidemics and conducts epidemiological surveillance of contagious diseases.
  • Professor Nuno Miguel dos Santos Ferrand de Almeida: Ferrand is a Professor of Genetics and Evolution at the Department of Biology in the University of Porto. As the Director of the Natural History and Science Museum of the University of Porto, he has organised various major exhibitions in genetics and evolution. He was awarded the 2022 Ciência Viva Grand Prix Award, which is awarded “to personalities and institutions of exceptional merit in the promotion of scientific culture in Portugal.”
  • Affiliated Professor Carla Oliveira: Oliveira is internationally recognised for her research in hereditary cancer and E-cadherin (tumour suppressor protein) related diseases. She described novel germline causes of hereditary gastrointestinal cancer. Oliveira has many roles including Executive Committee Secretary General of the European Society of Human Genetics, Vice-coordinator of the Scientific Program Committee of the Portuguese Society of Human Genetics and PI of multi-million dollar research projects.

The future genomics landscape

Emerging medical research areas like regenerative and precision medicine offer cutting-edge treatments for a variety of diseases. The new Discoveries Centre for Regenerative and Precision Medicine is being established in Portugal to advance research in these areas. The project started in April 2017 and is due to finish in March 2024. The initiative is a collaboration between 5 top-raking universities in Portugal and University College London. It is coordinated by the Portuguese Foundation for Science & Technology. The project aims to facilitate world-leading translational research by bringing together the best research groups in Portugal and providing advanced training. The overarching long-term aim is to tackle the challenges of the ageing European population. This includes improving the quality of life and conducting research in diseases areas that frequently impact this population (neurodegenerative, cardiovascular and musculoskeletal diseases).

The biotechnology sector is expanding in Portugal. A study, conducted by the Portuguese biological data infrastructure, BioData.pt, showed that the sector grew by 33% over the last 10 years. Portugal has a higher investment rate in the biotechnology sector than the European average. The industry has been identified as a high-priority sector and will be focussed on to drive the competitiveness of the Portuguese economy.  

There is also growing interest in pharmacogenomic research in Portugal. Although most pharmacogenomic studies were conducted around ten years ago, efforts to implement precision medicine and continued investment in the biotechnology sector suggest that pharmacogenomics may receive renewed attention.

References

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